#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TXNDC2	84203	broad.mit.edu	37	18	9886961	9886961	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr18:9886961G>A	ENST00000306084.6	+	2	684	c.485G>A	c.(484-486)gGc>gAc	p.G162D	TXNDC2_ENST00000536353.2_Missense_Mutation_p.G95D|TXNDC2_ENST00000357775.5_Missense_Mutation_p.G95D	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	162	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAAGCTGGGCAATATTCCC	0.562																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(484-486)gGc>gAc		thioredoxin domain containing 2 (spermatozoa)							123.0	131.0	128.0					18																	9886961		2203	4300	6503	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886961G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.485G>A	18.37:g.9886961G>A	ENSP00000304908:p.Gly162Asp					TXNDC2_ENST00000357775.4_Missense_Mutation_p.G95D|TXNDC2_ENST00000536353.2_Missense_Mutation_p.G95D	p.G162D	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	684	+			162			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.485G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	8.901	0.956346	0.18507	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.41758	1.94;0.99;0.99	3.16	-6.33	0.01988	.	1.685430	0.03585	N	0.230870	T	0.25082	0.0609	N	0.14661	0.345	0.09310	N	1	B	0.33637	0.42	B	0.37198	0.243	T	0.21655	-1.0239	9	.	.	.	-1.0E-4	7.5046	0.27536	0.3653:0.4185:0.2161:0.0	.	162	Q86VQ3	TXND2_HUMAN	D	95;95;162;162	ENSP00000437393:G95D;ENSP00000350419:G95D;ENSP00000304908:G162D	.	G	+	2	0	TXNDC2	9876961	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.096000	0.00606	-2.727000	0.00386	-0.368000	0.07277	GGC		0.562	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			4	141	0	0	0	1	0	4	141				
SIMC1	375484	broad.mit.edu	37	5	175764121	175764121	+	Silent	SNP	G	G	C	rs370669736		TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr5:175764121G>C	ENST00000443967.1	+	11	2735	c.2328G>C	c.(2326-2328)ctG>ctC	p.L776L	SIMC1_ENST00000332772.4_Silent_p.L237L|SIMC1_ENST00000341199.6_Silent_p.L361L|SIMC1_ENST00000430704.2_Silent_p.L361L			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	776							SUMO polymer binding (GO:0032184)										TGCAGTTTCTGCTGTCCAGTT	0.408																																						ENST00000443967.1																			0											c.(2326-2328)ctG>ctC		SUMO-interacting motifs containing 1		G		0,4406		0,0,2203	204.0	201.0	202.0		1083	0.9	0.9	5		202	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C5orf25	NM_198567.4		0,1,6502	CC,CG,GG		0.0116,0.0,0.0077		361/458	175764121	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	375484							g.chr5:175764121G>C	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2328G>C	5.37:g.175764121G>C						SIMC1_ENST00000430704.2_Silent_p.L361L|SIMC1_ENST00000332772.4_Silent_p.L237L|SIMC1_ENST00000341199.6_Silent_p.L361L	p.L776L							11	2735	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Silent	SNP	ENST00000443967.1	37	c.2328G>C																																																																																					0.408	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		17	90	0	0	0	1	0	17	90				
AFAP1L2	84632	broad.mit.edu	37	10	116062114	116062114	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr10:116062114C>T	ENST00000304129.4	-	12	1443	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	AFAP1L2_ENST00000369271.3_Missense_Mutation_p.A472T|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A525T|AFAP1L2_ENST00000491814.1_5'Flank			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	472					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)	p.A472T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GAGTTTTTGGCCGCACTCACA	0.547																																						ENST00000369271.3																			1	Substitution - Missense(1)	p.A472T(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1414-1416)Gcc>Acc		actin filament associated protein 1-like 2							152.0	169.0	163.0					10																	116062114		2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116062114C>T	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1414G>A	10.37:g.116062114C>T	ENSP00000303042:p.Ala472Thr					AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A525T|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.A472T	p.A472T	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	12	1714	-		Colorectal(252;0.175)|Breast(234;0.231)	472					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.1414G>A	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397481	0.96009	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.16897	2.31;2.31;2.31	5.67	5.67	0.87782	.	0.112592	0.64402	D	0.000012	T	0.47021	0.1423	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.993;0.998;0.998;0.999;0.998	T	0.44065	-0.9352	10	0.72032	D	0.01	-32.3907	19.773	0.96379	0.0:1.0:0.0:0.0	.	525;38;526;500;472;472	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;AF1L2_HUMAN	T	472;472;499;525	ENSP00000358276:A472T;ENSP00000303042:A472T;ENSP00000444511:A525T	ENSP00000303042:A472T	A	-	1	0	AFAP1L2	116052104	1.000000	0.71417	0.962000	0.40283	0.980000	0.70556	7.456000	0.80751	2.677000	0.91161	0.655000	0.94253	GCC		0.547	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		5	159	0	0	0	1	0	5	159				
SNX19	399979	broad.mit.edu	37	11	130785052	130785052	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr11:130785052G>C	ENST00000265909.4	-	1	1352	c.783C>G	c.(781-783)caC>caG	p.H261Q	SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.H261Q|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	261	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CGAGTACAAGGTGGATCCAGT	0.547																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(781-783)caC>caG		sorting nexin 19							82.0	84.0	84.0					11																	130785052		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785052G>C	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.783C>G	11.37:g.130785052G>C	ENSP00000265909:p.His261Gln					SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.H261Q|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron	p.H261Q	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1352	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	261			PXA.		E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.783C>G	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966965	0.34754	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.13901	2.97;2.55	5.58	4.67	0.58626	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	0.043540	0.85682	D	0.000000	T	0.25121	0.0610	L	0.47716	1.5	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.59595	0.86;0.86	T	0.00928	-1.1511	10	0.87932	D	0	-11.8199	10.8752	0.46906	0.1439:0.0:0.8561:0.0	.	261;261	E9PKB9;Q92543	.;SNX19_HUMAN	Q	261	ENSP00000265909:H261Q;ENSP00000435390:H261Q	ENSP00000265909:H261Q	H	-	3	2	SNX19	130290262	1.000000	0.71417	0.999000	0.59377	0.480000	0.33159	2.057000	0.41365	1.364000	0.46038	-0.128000	0.14901	CAC		0.547	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		19	75	0	0	0	1	0	19	75				
CD96	10225	broad.mit.edu	37	3	111263944	111263944	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr3:111263944G>A	ENST00000283285.5	+	2	244	c.113G>A	c.(112-114)gGc>gAc	p.G38D	CD96_ENST00000352690.4_Missense_Mutation_p.G38D|CD96_ENST00000438817.2_Missense_Mutation_p.G38D	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	38	Ig-like V-type 1.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GCTACACTTGGCTCTGATGTC	0.403									Opitz Trigonocephaly syndrome																													ENST00000352690.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						c.(112-114)gGc>gAc		CD96 molecule							168.0	146.0	153.0					3																	111263944		2203	4300	6503	SO:0001583	missense	10225	Opitz Trigonocephaly syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111263944G>A	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.113G>A	3.37:g.111263944G>A	ENSP00000283285:p.Gly38Asp					CD96_ENST00000438817.2_Missense_Mutation_p.G38D|CD96_ENST00000283285.5_Missense_Mutation_p.G38D	p.G38D	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN			2	353	+			38			Ig-like V-type 1.		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.113G>A	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877481	0.72294	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.54479	0.57;0.57;0.57	5.21	5.21	0.72293	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.69637	0.3133	M	0.68952	2.095	0.39259	D	0.964183	D;D;D;D	0.69078	0.997;0.996;0.997;0.997	D;D;D;D	0.72338	0.977;0.962;0.977;0.977	T	0.74662	-0.3590	10	0.87932	D	0	-6.2189	14.2559	0.66051	0.0:0.0:1.0:0.0	.	38;38;38;38	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	D	38	ENSP00000342040:G38D;ENSP00000283285:G38D;ENSP00000389801:G38D	ENSP00000283285:G38D	G	+	2	0	CD96	112746634	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.828000	0.62730	2.438000	0.82558	0.655000	0.94253	GGC		0.403	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			4	114	0	0	0	1	0	4	114				
VPS13C	54832	broad.mit.edu	37	15	62253881	62253881	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr15:62253881T>C	ENST00000261517.5	-	35	3888	c.3815A>G	c.(3814-3816)cAt>cGt	p.H1272R	VPS13C_ENST00000395898.3_Missense_Mutation_p.H1229R|VPS13C_ENST00000249837.3_Missense_Mutation_p.H1229R|VPS13C_ENST00000395896.4_Missense_Mutation_p.H1272R	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAACTGATTATGAACTCTGAT	0.383																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3814-3816)cAt>cGt		vacuolar protein sorting 13 homolog C (S. cerevisiae)							106.0	104.0	104.0					15																	62253881		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62253881T>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3815A>G	15.37:g.62253881T>C	ENSP00000261517:p.His1272Arg					VPS13C_ENST00000249837.3_Missense_Mutation_p.H1229R|VPS13C_ENST00000395896.4_Missense_Mutation_p.H1272R|VPS13C_ENST00000395898.3_Missense_Mutation_p.H1229R	p.H1272R	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			35	3888	-			1272						Missense_Mutation	SNP	ENST00000261517.5	37	c.3815A>G	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	8.689	0.906930	0.17833	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.12774	2.65;2.65;2.65	5.76	5.76	0.90799	.	0.677816	0.14338	N	0.325921	T	0.08714	0.0216	N	0.08118	0	0.24977	N	0.991624	B;B;B;B	0.12013	0.005;0.005;0.003;0.003	B;B;B;B	0.17722	0.019;0.013;0.004;0.009	T	0.30563	-0.9974	10	0.15499	T	0.54	.	16.0677	0.80897	0.0:0.0:0.0:1.0	.	1229;1272;1229;1272	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	R	1229;1272;1272;1272	ENSP00000249837:H1229R;ENSP00000261517:H1272R;ENSP00000379233:H1272R	ENSP00000249837:H1229R	H	-	2	0	VPS13C	60041173	0.998000	0.40836	0.914000	0.36105	0.942000	0.58702	3.055000	0.49916	2.185000	0.69588	0.460000	0.39030	CAT		0.383	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		35	63	0	0	0	1	0	35	63				
CPA4	51200	broad.mit.edu	37	7	129948219	129948219	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr7:129948219T>G	ENST00000222482.4	+	8	803	c.775T>G	c.(775-777)Tgg>Ggg	p.W259G	CPA4_ENST00000493259.1_Missense_Mutation_p.W155G|CPA4_ENST00000445470.2_Missense_Mutation_p.W226G	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	259					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					AAATAGAAACTGGAACGCTAG	0.562																																						ENST00000222482.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(775-777)Tgg>Ggg		carboxypeptidase A4							94.0	83.0	87.0					7																	129948219		2203	4300	6503	SO:0001583	missense	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129948219T>G	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.775T>G	7.37:g.129948219T>G	ENSP00000222482:p.Trp259Gly					CPA4_ENST00000493259.1_Missense_Mutation_p.W155G|CPA4_ENST00000445470.2_Missense_Mutation_p.W226G	p.W259G	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN			8	803	+	Melanoma(18;0.0435)		259					B7Z576|Q86UY9	Missense_Mutation	SNP	ENST00000222482.4	37	c.775T>G	CCDS5818.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037455	0.75617	.	.	ENSG00000128510	ENST00000445470;ENST00000222482;ENST00000538687;ENST00000493259	T;T;T	0.14144	2.53;2.53;2.53	5.8	5.8	0.92144	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	T	0.65170	-0.6233	10	0.87932	D	0	.	14.1132	0.65137	0.0:0.0:0.0:1.0	.	226;259	B7Z576;Q9UI42	.;CBPA4_HUMAN	G	226;259;64;155	ENSP00000412947:W226G;ENSP00000222482:W259G;ENSP00000419660:W155G	ENSP00000222482:W259G	W	+	1	0	CPA4	129735455	1.000000	0.71417	0.995000	0.50966	0.757000	0.42996	7.507000	0.81676	2.213000	0.71641	0.477000	0.44152	TGG		0.562	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		5	50	0	0	0	1	0	5	50				
GUCY1A3	2982	broad.mit.edu	37	4	156632137	156632137	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr4:156632137T>C	ENST00000296518.7	+	6	1029	c.820T>C	c.(820-822)Tcg>Ccg	p.S274P	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S274P|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S16P			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	274					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ACCCCAGTCCTCGCTGGTGAT	0.458																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(820-822)Tcg>Ccg		guanylate cyclase 1, soluble, alpha 3							111.0	106.0	107.0					4																	156632137		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156632137T>C		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.820T>C	4.37:g.156632137T>C	ENSP00000296518:p.Ser274Pro					GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S274P|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S16P	p.S274P			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	1029	+	all_hematologic(180;0.24)	Renal(120;0.0854)	274					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.820T>C	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238171	0.79800	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.76	4.56	0.56223	Haem NO binding associated (1);	0.104953	0.42964	D	0.000633	D	0.89392	0.6702	L	0.36672	1.1	0.41172	D	0.986177	D;D;D	0.53619	0.961;0.961;0.961	P;P;P	0.57846	0.828;0.828;0.828	D	0.89015	0.3431	10	0.49607	T	0.09	.	12.5278	0.56096	0.125:0.0:0.0:0.8749	.	274;274;274	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	P	274;274;274;274;16;274;274	ENSP00000424361:S274P;ENSP00000421493:S274P;ENSP00000426968:S274P;ENSP00000412201:S274P;ENSP00000377418:S16P;ENSP00000296518:S274P;ENSP00000426040:S274P	ENSP00000296518:S274P	S	+	1	0	GUCY1A3	156851587	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	4.452000	0.60054	1.087000	0.41251	0.523000	0.50628	TCG		0.458	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			4	77	0	0	0	1	0	4	77				
JOSD1	9929	broad.mit.edu	37	22	39085109	39085109	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr22:39085109T>C	ENST00000216039.5	-	3	1019	c.340A>G	c.(340-342)Aac>Gac	p.N114D		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	114	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					CCCATGACGTTAGTGAGGGCA	0.552																																						ENST00000216039.5																			0				large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5						c.(340-342)Aac>Gac		Josephin domain containing 1							74.0	64.0	67.0					22																	39085109		2203	4300	6503	SO:0001583	missense	9929						peptidase activity	g.chr22:39085109T>C		CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.340A>G	22.37:g.39085109T>C	ENSP00000216039:p.Asn114Asp						p.N114D	NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN			3	1019	-	Melanoma(58;0.04)		114			Josephin.		A8K712	Missense_Mutation	SNP	ENST00000216039.5	37	c.340A>G	CCDS13976.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.792596	0.70452	.	.	ENSG00000100221	ENST00000216039;ENST00000427389	T;T	0.41065	1.01;1.01	5.76	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.82323	2.585	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.62918	-0.6752	10	0.22109	T	0.4	.	11.7065	0.51599	0.0:0.0688:0.0:0.9312	.	114	Q15040	JOS1_HUMAN	D	114	ENSP00000216039:N114D;ENSP00000410010:N114D	ENSP00000216039:N114D	N	-	1	0	JOSD1	37415055	1.000000	0.71417	0.924000	0.36721	0.583000	0.36354	6.279000	0.72620	1.009000	0.39289	-0.256000	0.11100	AAC		0.552	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321047.1	NM_014876		7	15	0	0	0	1	0	7	15				
AOC3	8639	broad.mit.edu	37	17	41003755	41003755	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr17:41003755G>A	ENST00000308423.2	+	1	555	c.395G>A	c.(394-396)aGg>aAg	p.R132K	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	132					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TTCTTTGGCAGGCAACCCCAG	0.677																																					NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(394-396)aGg>aAg		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)						9.0	10.0	10.0					17																	41003755		2077	4071	6148	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41003755G>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.395G>A	17.37:g.41003755G>A	ENSP00000312326:p.Arg132Lys						p.R132K	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	555	+		Breast(137;0.000143)	132					B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.395G>A	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.770031	0.00645	.	.	ENSG00000131471	ENST00000308423	T	0.28255	1.62	4.75	-1.54	0.08584	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	1.049840	0.07407	N	0.891659	T	0.12646	0.0307	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31530	-0.9940	10	0.21014	T	0.42	.	11.6568	0.51324	0.1254:0.7335:0.1412:0.0	.	132	Q16853	AOC3_HUMAN	K	132	ENSP00000312326:R132K	ENSP00000312326:R132K	R	+	2	0	AOC3	38257281	0.000000	0.05858	0.007000	0.13788	0.241000	0.25554	-0.217000	0.09253	-0.038000	0.13624	0.591000	0.81541	AGG		0.677	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		7	31	0	0	0	1	0	7	31				
DPPA2	151871	broad.mit.edu	37	3	109027103	109027103	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr3:109027103C>T	ENST00000478945.1	-	6	680	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	145					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTCGAACATCGCTGTAATCT	0.438																																						ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(433-435)cGa>cAa		developmental pluripotency associated 2							140.0	120.0	126.0					3																	109027103		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109027103C>T	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.434G>A	3.37:g.109027103C>T	ENSP00000417710:p.Arg145Gln						p.R145Q	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			6	680	-			145					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.434G>A	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	6.040	0.375697	0.11409	.	.	ENSG00000163530	ENST00000478945	T	0.47869	0.83	3.89	6.22E-6	0.14040	.	1.830180	0.02677	N	0.109176	T	0.22475	0.0542	N	0.04508	-0.205	0.09310	N	1	B	0.20261	0.043	B	0.12156	0.007	T	0.08391	-1.0724	10	0.22706	T	0.39	0.3328	1.0189	0.01513	0.2142:0.1891:0.4201:0.1766	.	145	Q7Z7J5	DPPA2_HUMAN	Q	145	ENSP00000417710:R145Q	ENSP00000417710:R145Q	R	-	2	0	DPPA2	110509793	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.058000	0.14301	-0.023000	0.13963	-0.321000	0.08615	CGA		0.438	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		5	56	0	0	0	1	0	5	56				
TPO	7173	broad.mit.edu	37	2	1418187	1418187	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr2:1418187G>A	ENST00000345913.4	+	2	98	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	TPO_ENST00000382269.3_Missense_Mutation_p.A3T|TPO_ENST00000382201.3_Missense_Mutation_p.A3T|TPO_ENST00000346956.3_Missense_Mutation_p.A3T|TPO_ENST00000349624.3_Missense_Mutation_p.A3T|TPO_ENST00000539820.1_Missense_Mutation_p.A3T|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.A3T|TPO_ENST00000337415.3_Missense_Mutation_p.A3T|TPO_ENST00000329066.4_Missense_Mutation_p.A3T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	3					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TAGAATGAGAGCGCTCGCTGT	0.522																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(7-9)Gcg>Acg		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						71.0	69.0	70.0					2																	1418187		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1418187G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.7G>A	2.37:g.1418187G>A	ENSP00000318820:p.Ala3Thr					TPO_ENST00000382269.3_Missense_Mutation_p.A3T|TPO_ENST00000346956.3_Missense_Mutation_p.A3T|TPO_ENST00000349624.3_Missense_Mutation_p.A3T|TPO_ENST00000382198.1_Missense_Mutation_p.A3T|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.A3T|TPO_ENST00000539820.1_Missense_Mutation_p.A3T|TPO_ENST00000337415.3_Missense_Mutation_p.A3T|TPO_ENST00000382201.3_Missense_Mutation_p.A3T	p.A3T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	2	98	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	3					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.7G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	6.848	0.525663	0.13066	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.66460	0.25;-0.21;-0.21;-0.16;0.07;0.25;-0.21;-0.12;0.28;0.07	5.39	-1.97	0.07503	.	1.351910	0.04684	N	0.412836	T	0.46927	0.1418	N	0.13043	0.29	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.001	B;B;B;B;B	0.09377	0.003;0.002;0.004;0.001;0.001	T	0.25082	-1.0142	10	0.16420	T	0.52	-1.8566	9.8779	0.41216	0.6312:0.0:0.3688:0.0	.	3;3;3;3;3	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	T	3	ENSP00000371704:A3T;ENSP00000337263:A3T;ENSP00000318820:A3T;ENSP00000263886:A3T;ENSP00000332044:A3T;ENSP00000444840:A3T;ENSP00000329869:A3T;ENSP00000371636:A3T;ENSP00000390994:A3T;ENSP00000371633:A3T	ENSP00000329869:A3T	A	+	1	0	TPO	1397194	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.663000	0.05299	-0.382000	0.07870	-0.812000	0.03155	GCG		0.522	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		11	25	0	0	0	1	0	11	25				
MLLT6	4302	broad.mit.edu	37	17	36881820	36881820	+	Missense_Mutation	SNP	A	A	G	rs145698748		TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr17:36881820A>G	ENST00000325718.7	+	20	3342	c.3251A>G	c.(3250-3252)aAa>aGa	p.K1084R		NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	1084					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					ACCGCTGACAAAGGAGCCTCA	0.582			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3250-3252)aAa>aGa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6		A	ARG/LYS	2,4404	4.2+/-10.8	0,2,2201	56.0	54.0	54.0		3251	4.3	1.0	17	dbSNP_134	54	0,8600		0,0,4300	yes	missense	MLLT6	NM_005937.3	26	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	benign	1084/1094	36881820	2,13004	2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36881820A>G		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.3251A>G	17.37:g.36881820A>G	ENSP00000316426:p.Lys1084Arg						p.K1084R	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			20	3342	+	Breast(7;4.43e-21)		1084					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.3251A>G	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.847765	0.51164	4.54E-4	0.0	ENSG00000108292	ENST00000325718	T	0.54866	0.55	5.37	4.3	0.51218	.	0.000000	0.64402	D	0.000004	T	0.46405	0.1391	L	0.58101	1.795	0.33227	D	0.555458	B	0.06786	0.001	B	0.06405	0.002	T	0.56007	-0.8050	10	0.66056	D	0.02	.	7.6784	0.28499	0.9073:0.0:0.0927:0.0	.	1084	P55198	AF17_HUMAN	R	1084	ENSP00000316426:K1084R	ENSP00000316426:K1084R	K	+	2	0	MLLT6	34135346	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.549000	0.45803	1.069000	0.40788	0.533000	0.62120	AAA		0.582	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		4	26	0	0	0	1	0	4	26				
RTN4	57142	broad.mit.edu	37	2	55252359	55252359	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr2:55252359G>A	ENST00000337526.6	-	3	3119	c.2876C>T	c.(2875-2877)gCc>gTc	p.A959V	RTN4_ENST00000394611.2_Missense_Mutation_p.A753V|RTN4_ENST00000405240.1_Missense_Mutation_p.A753V|RTN4_ENST00000404909.1_Missense_Mutation_p.A753V|RTN4_ENST00000354474.6_Missense_Mutation_p.A727V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.A753V|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	959					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TGCTTGAGTGGCCAAAGCAGA	0.403																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(2875-2877)gCc>gTc		reticulon 4							128.0	128.0	128.0					2																	55252359		2203	4300	6503	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55252359G>A	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2876C>T	2.37:g.55252359G>A	ENSP00000337838:p.Ala959Val					RTN4_ENST00000405240.1_Missense_Mutation_p.A753V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.A753V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.A727V|RTN4_ENST00000357376.3_Missense_Mutation_p.A753V|RTN4_ENST00000404909.1_Missense_Mutation_p.A753V	p.A959V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	3119	-			959					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.2876C>T	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	G	3.438	-0.114770	0.06881	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.2	5.17	0.901	0.19284	.	1.119980	0.06721	N	0.774867	T	0.20170	0.0485	L	0.51422	1.61	0.09310	N	1	B	0.26318	0.146	B	0.22152	0.038	T	0.31280	-0.9949	10	0.33141	T	0.24	0.9988	9.1212	0.36788	0.0686:0.0:0.5082:0.4232	.	959	Q9NQC3	RTN4_HUMAN	V	753;753;959;753;753;727	ENSP00000384471:A753V;ENSP00000349944:A753V;ENSP00000337838:A959V;ENSP00000378109:A753V;ENSP00000385650:A753V;ENSP00000346465:A727V	ENSP00000337838:A959V	A	-	2	0	RTN4	55105863	0.003000	0.15002	0.012000	0.15200	0.006000	0.05464	1.295000	0.33377	0.224000	0.20940	0.655000	0.94253	GCC		0.403	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			4	108	0	0	0	1	0	4	108				
OR10X1	128367	broad.mit.edu	37	1	158549598	158549598	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr1:158549598A>G	ENST00000368150.1	-	1	91	c.92T>C	c.(91-93)gTt>gCt	p.V31A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGAAAAGCCAACAAGAATGAA	0.368																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(91-93)gTt>gCt		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							123.0	120.0	121.0					1																	158549598		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549598A>G	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.92T>C	1.37:g.158549598A>G	ENSP00000357132:p.Val31Ala						p.V31A	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	91	-	all_hematologic(112;0.0378)		31					Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.92T>C	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	A	8.714	0.912642	0.17907	.	.	ENSG00000186400	ENST00000368150	T	0.00448	7.38	5.13	5.13	0.70059	.	0.343745	0.21033	N	0.081313	T	0.00144	0.0004	L	0.52266	1.64	0.09310	N	1	P	0.40909	0.732	B	0.29716	0.106	T	0.21690	-1.0238	10	0.62326	D	0.03	.	9.4549	0.38750	0.8416:0.0:0.0:0.1584	.	31	Q8NGY0	O10X1_HUMAN	A	31	ENSP00000357132:V31A	ENSP00000357132:V31A	V	-	2	0	OR10X1	156816222	0.000000	0.05858	0.076000	0.20297	0.384000	0.30261	0.579000	0.23788	2.139000	0.66308	0.528000	0.53228	GTT		0.368	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		20	223	0	0	0	1	0	20	223				
TRIM51	84767	broad.mit.edu	37	11	55653270	55653270	+	Silent	SNP	G	G	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr11:55653270G>A	ENST00000449290.2	+	2	458	c.366G>A	c.(364-366)cgG>cgA	p.R122R	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	122						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AGGAGCACCGGAATCACATAC	0.478																																						ENST00000449290.2																			0											c.(364-366)cgG>cgA		tripartite motif-containing 51							18.0	17.0	17.0					11																	55653270		692	1591	2283	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55653270G>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.366G>A	11.37:g.55653270G>A							p.R122R	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			2	458	+			122					A6NMG2	Silent	SNP	ENST00000449290.2	37	c.366G>A																																																																																					0.478	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		8	67	0	0	0	1	0	8	67				
POLR3B	55703	broad.mit.edu	37	12	106897897	106897897	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr12:106897897G>A	ENST00000228347.4	+	27	3359	c.3137G>A	c.(3136-3138)cGt>cAt	p.R1046H	POLR3B_ENST00000539066.1_Missense_Mutation_p.R988H|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1046					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGTGGCTTGCGTCTCGGGGAA	0.418																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(3136-3138)cGt>cAt		polymerase (RNA) III (DNA directed) polypeptide B							257.0	222.0	234.0					12																	106897897		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106897897G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3137G>A	12.37:g.106897897G>A	ENSP00000228347:p.Arg1046His					RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Missense_Mutation_p.R988H	p.R1046H	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			27	3359	+			1046					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.3137G>A	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	36	5.605987	0.96626	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	D;D	0.87650	-2.28;-2.28	5.75	5.75	0.90469	RNA polymerase Rpb2, domain 7 (1);	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	H	0.99974	5.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99201	1.0873	10	0.87932	D	0	-15.9032	19.9598	0.97242	0.0:0.0:1.0:0.0	.	1046	Q9NW08	RPC2_HUMAN	H	1046;988	ENSP00000228347:R1046H;ENSP00000445721:R988H	ENSP00000228347:R1046H	R	+	2	0	POLR3B	105422027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.716000	0.92895	0.655000	0.94253	CGT		0.418	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		6	131	0	0	0	1	0	6	131				
PIGO	84720	broad.mit.edu	37	9	35092369	35092369	+	Silent	SNP	C	C	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr9:35092369C>T	ENST00000378617.3	-	7	1909	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Silent_p.E505E|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	505					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTAGCTTCAGCTCAATAGTTC	0.582																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(1513-1515)gaG>gaA		phosphatidylinositol glycan anchor biosynthesis, class O							55.0	57.0	57.0					9																	35092369		2203	4300	6503	SO:0001819	synonymous_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092369C>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1515G>A	9.37:g.35092369C>T						PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Silent_p.E505E	p.E505E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1909	-			505					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	c.1515G>A	CCDS6575.1																																																																																				0.582	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		10	49	0	0	0	1	0	10	49				
HECA	51696	broad.mit.edu	37	6	139488311	139488311	+	Missense_Mutation	SNP	C	C	T	rs200417003		TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr6:139488311C>T	ENST00000367658.2	+	2	1447	c.1162C>T	c.(1162-1164)Ctc>Ttc	p.L388F	RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	388					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TCTGGCCGCGCTCAGTGCCAG	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17196	0.0		0.0	False		,,,				2504	0.0					ENST00000367658.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(1162-1164)Ctc>Ttc		headcase homolog (Drosophila)							51.0	46.0	48.0					6																	139488311		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139488311C>T	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1162C>T	6.37:g.139488311C>T	ENSP00000356630:p.Leu388Phe					RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA	p.L388F	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	1447	+			388						Missense_Mutation	SNP	ENST00000367658.2	37	c.1162C>T	CCDS5194.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	24.1	4.489696	0.84962	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.07	5.07	0.68467	.	0.057651	0.64402	D	0.000001	T	0.62636	0.2444	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66976	-0.5787	9	0.87932	D	0	.	18.6449	0.91407	0.0:1.0:0.0:0.0	.	388	Q9UBI9	HDC_HUMAN	F	388	.	ENSP00000356630:L388F	L	+	1	0	HECA	139530004	1.000000	0.71417	0.992000	0.48379	0.921000	0.55340	5.532000	0.67154	2.642000	0.89623	0.563000	0.77884	CTC		0.577	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		12	45	0	0	0	1	0	12	45				
THOC1	9984	broad.mit.edu	37	18	246364	246364	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr18:246364C>T	ENST00000261600.6	-	11	885	c.878G>A	c.(877-879)gGa>gAa	p.G293E	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	293					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TACATGTTCTCCTCCTGTTTT	0.274																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(877-879)gGa>gAa		THO complex 1							48.0	47.0	47.0					18																	246364		1783	4054	5837	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:246364C>T	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.878G>A	18.37:g.246364C>T	ENSP00000261600:p.Gly293Glu					THOC1_ENST00000582313.1_5'UTR	p.G293E	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			11	885	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	293					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.878G>A	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308658	0.60305	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.81	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79784	0.923;0.993	T	0.62263	-0.6891	9	0.05351	T	0.99	-18.902	14.866	0.70416	0.0:0.9314:0.0:0.0686	.	293;293	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	E	293	.	ENSP00000261600:G293E	G	-	2	0	THOC1	236364	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.468000	0.80943	1.457000	0.47850	0.655000	0.94253	GGA		0.274	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		7	41	0	0	0	1	0	7	41				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	283	0	0	0	1	0	4	283				
C5	727	broad.mit.edu	37	9	123742463	123742463	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr9:123742463A>C	ENST00000223642.1	-	28	3585	c.3556T>G	c.(3556-3558)Ttt>Gtt	p.F1186V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1186					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GCCAATGTAAAGGTGCTCTGG	0.408																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(3556-3558)Ttt>Gtt		complement component 5	Eculizumab(DB01257)						142.0	140.0	141.0					9																	123742463		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123742463A>C	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3556T>G	9.37:g.123742463A>C	ENSP00000223642:p.Phe1186Val						p.F1186V	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	28	3585	-			1186					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.3556T>G	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.355313	0.61293	.	.	ENSG00000106804	ENST00000223642	T	0.35421	1.31	5.13	5.13	0.70059	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.057909	0.64402	D	0.000001	T	0.43523	0.1251	M	0.78916	2.43	0.46849	D	0.999224	B	0.28713	0.22	B	0.33121	0.158	T	0.44651	-0.9314	10	0.52906	T	0.07	.	12.6951	0.56999	1.0:0.0:0.0:0.0	.	1186	P01031	CO5_HUMAN	V	1186	ENSP00000223642:F1186V	ENSP00000223642:F1186V	F	-	1	0	C5	122782284	1.000000	0.71417	0.974000	0.42286	0.947000	0.59692	5.235000	0.65348	1.932000	0.55993	0.533000	0.62120	TTT		0.408	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		21	77	0	0	0	1	0	21	77				
KLRD1	3824	broad.mit.edu	37	12	10462061	10462061	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr12:10462061G>T	ENST00000381907.4	+	3	284	c.82G>T	c.(82-84)Gga>Tga	p.G28*	KLRD1_ENST00000543420.1_Nonsense_Mutation_p.G28*|KLRD1_ENST00000538997.1_Intron|KLRD1_ENST00000543777.1_Nonsense_Mutation_p.G28*|KLRD1_ENST00000350274.5_Intron|KLRD1_ENST00000336164.4_Nonsense_Mutation_p.G28*|KLRD1_ENST00000381908.3_Nonsense_Mutation_p.G28*	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	28					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						GTCTACGTTGGGAATTTTGTT	0.343																																						ENST00000381908.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						c.(82-84)Gga>Tga		killer cell lectin-like receptor subfamily D, member 1							104.0	94.0	97.0					12																	10462061		2203	4300	6503	SO:0001587	stop_gained	3824				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10462061G>T	U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"""Killer cell lectin-like receptors"", ""CD molecules"""	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.82G>T	12.37:g.10462061G>T	ENSP00000371332:p.Gly28*					KLRD1_ENST00000538997.1_Intron|KLRD1_ENST00000543777.1_Nonsense_Mutation_p.G28*|KLRD1_ENST00000381907.4_Nonsense_Mutation_p.G28*|KLRD1_ENST00000543420.1_Nonsense_Mutation_p.G28*|KLRD1_ENST00000350274.5_Intron|KLRD1_ENST00000336164.4_Nonsense_Mutation_p.G28*	p.G28*			Q13241	KLRD1_HUMAN			2	342	+			28					O43321|O43773|Q9UBE3|Q9UEQ0	Nonsense_Mutation	SNP	ENST00000381907.4	37	c.82G>T	CCDS8621.1	.	.	.	.	.	.	.	.	.	.	G	35	5.537811	0.96460	.	.	ENSG00000134539	ENST00000381907;ENST00000381908;ENST00000336164;ENST00000543420;ENST00000543777	.	.	.	4.82	4.82	0.62117	.	0.309004	0.23676	N	0.045678	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.1213	0.65189	0.0:0.0:1.0:0.0	.	.	.	.	X	28	.	ENSP00000338130:G28X	G	+	1	0	KLRD1	10353328	1.000000	0.71417	0.602000	0.28890	0.019000	0.09904	1.303000	0.33470	2.602000	0.87976	0.591000	0.81541	GGA		0.343	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399684.2	NM_002262		15	69	1	0	3.32936e-07	1	3.39218e-07	15	69				
HAT1	8520	broad.mit.edu	37	2	172841113	172841113	+	Missense_Mutation	SNP	A	A	G	rs367808768		TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr2:172841113A>G	ENST00000264108.4	+	9	877	c.841A>G	c.(841-843)Agc>Ggc	p.S281G	HAT1_ENST00000392584.1_Missense_Mutation_p.S196G|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	281					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TCCATCCAAAAGCTATGTGAA	0.333																																						ENST00000264108.4																			0				breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19						c.(841-843)Agc>Ggc		histone acetyltransferase 1							81.0	80.0	80.0					2																	172841113		2203	4300	6503	SO:0001583	missense	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172841113A>G	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.841A>G	2.37:g.172841113A>G	ENSP00000264108:p.Ser281Gly					SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.S196G	p.S281G	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		9	877	+			281					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	c.841A>G	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207325	0.58343	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.63	5.63	0.86233	Acyl-CoA N-acyltransferase (2);	0.083649	0.85682	D	0.000000	T	0.56731	0.2005	L	0.43923	1.385	0.43430	D	0.995596	B;B	0.22146	0.065;0.039	B;B	0.12837	0.008;0.006	T	0.56408	-0.7984	9	0.87932	D	0	-32.3833	16.1381	0.81502	1.0:0.0:0.0:0.0	.	196;281	O14929-2;O14929	.;HAT1_HUMAN	G	196;281	.	ENSP00000264108:S281G	S	+	1	0	HAT1	172549359	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.638000	0.91019	2.258000	0.74832	0.533000	0.62120	AGC		0.333	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		27	2	0	0	0	1	0	27	2				
TRIP11	9321	broad.mit.edu	37	14	92470283	92470283	+	Missense_Mutation	SNP	T	T	C	rs200785955		TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr14:92470283T>C	ENST00000267622.4	-	11	4410	c.4037A>G	c.(4036-4038)cAg>cGg	p.Q1346R		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1346				QQ -> HE (in Ref. 5; AAB84386). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TAACTCTTGCTGAAGCAATTC	0.418			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(4036-4038)cAg>cGg		thyroid hormone receptor interactor 11							89.0	90.0	90.0					14																	92470283		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470283T>C	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4037A>G	14.37:g.92470283T>C	ENSP00000267622:p.Gln1346Arg						p.Q1346R	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	4410	-			1346	QQ -> HE (in Ref. 4; AAB84386).				B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.4037A>G	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	2.411	-0.335304	0.05278	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.04119	3.7	3.85	2.7	0.31948	.	0.460006	0.22711	N	0.056561	T	0.04227	0.0117	L	0.50333	1.59	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.10450	0.002;0.005	T	0.45556	-0.9253	10	0.14656	T	0.56	.	3.2645	0.06860	0.1723:0.1935:0.0:0.6342	.	1082;1346	F5H1Z0;Q15643	.;TRIPB_HUMAN	R	1346;1082	ENSP00000267622:Q1346R	ENSP00000267622:Q1346R	Q	-	2	0	TRIP11	91540036	0.073000	0.21202	0.011000	0.14972	0.220000	0.24768	0.275000	0.18698	0.366000	0.24427	0.374000	0.22700	CAG		0.418	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			17	62	0	0	0	1	0	17	62				
FAM83D	81610	broad.mit.edu	37	20	37576619	37576619	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr20:37576619T>A	ENST00000217429.4	+	3	883	c.842T>A	c.(841-843)aTc>aAc	p.I281N		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	251					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ATTGATGGCATCCGCGTGGCA	0.418																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(841-843)aTc>aAc		family with sequence similarity 83, member D							103.0	97.0	99.0					20																	37576619		1969	4158	6127	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37576619T>A	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.842T>A	20.37:g.37576619T>A	ENSP00000217429:p.Ile281Asn						p.I281N	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			3	883	+		Myeloproliferative disorder(115;0.00878)	251					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.842T>A	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.036466	0.35893	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.10477	2.87	6.16	6.16	0.99307	.	0.099623	0.64402	D	0.000002	T	0.07234	0.0183	N	0.05124	-0.11	0.44024	D	0.996748	P	0.40282	0.711	B	0.41374	0.355	T	0.51426	-0.8707	10	0.17369	T	0.5	.	16.4795	0.84153	0.0:0.0:0.0:1.0	.	251	Q9H4H8	FA83D_HUMAN	N	281;235	ENSP00000217429:I281N	ENSP00000217429:I281N	I	+	2	0	FAM83D	37010033	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.893000	0.63199	2.367000	0.80283	0.528000	0.53228	ATC		0.418	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			12	75	0	0	0	1	0	12	75				
DOCK8	81704	broad.mit.edu	37	9	441994	441994	+	Silent	SNP	C	C	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr9:441994C>T	ENST00000453981.1	+	42	5587	c.5475C>T	c.(5473-5475)atC>atT	p.I1825I	DOCK8_ENST00000382329.1_Silent_p.I1292I|DOCK8_ENST00000432829.2_Silent_p.I1757I|DOCK8_ENST00000469391.1_Silent_p.I1725I			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1825	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTCCTGAGATCTCACATAGAC	0.403																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(5269-5271)atC>atT		dedicator of cytokinesis 8							108.0	105.0	106.0					9																	441994		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:441994C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5475C>T	9.37:g.441994C>T						DOCK8_ENST00000453981.1_Silent_p.I1825I|DOCK8_ENST00000382329.1_Silent_p.I1292I|DOCK8_ENST00000469391.1_Silent_p.I1725I	p.I1757I	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	42	5587	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1825			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.5271C>T	CCDS6440.2																																																																																				0.403	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		10	85	0	0	0	1	0	10	85				
DCAF11	80344	broad.mit.edu	37	14	24592285	24592285	+	Splice_Site	SNP	C	C	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr14:24592285C>T	ENST00000446197.3	+	14	2232	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L	RP11-468E2.6_ENST00000558325.1_Splice_Site_p.F91F|DCAF11_ENST00000396936.1_Splice_Site_p.S402L|DCAF11_ENST00000396941.4_Splice_Site_p.S476L|DCAF11_ENST00000559115.1_Splice_Site_p.S502L	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	502					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.S502L(1)									GTCAGCAGTTCGGTGAGGTTG	0.572																																						ENST00000446197.3																			1	Substitution - Missense(1)	p.S502L(1)	large_intestine(1)								c.e14+1		DDB1 and CUL4 associated factor 11							140.0	118.0	125.0					14																	24592285		2203	4300	6503	SO:0001630	splice_region_variant	80344					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24592285C>T	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.1506+1C>T	14.37:g.24592285C>T						DCAF11_ENST00000396936.1_Splice_Site_p.S402_splice|RP11-468E2.6_ENST00000558325.1_Splice_Site_p.F91_splice|DCAF11_ENST00000559115.1_Splice_Site_p.S502_splice|DCAF11_ENST00000396941.4_Splice_Site_p.S476_splice	p.S502_splice	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN			14	2232	+			502					B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Splice_Site	SNP	ENST00000446197.3	37	c.1506_splice	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	c	31	5.092934	0.94149	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.74421	-0.84;-0.84	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91395	0.7285	H	0.98027	4.13	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.988;0.999;1.0;0.996	P;P;D;D;P	0.78314	0.889;0.592;0.937;0.991;0.788	D	0.94078	0.7341	10	0.87932	D	0	-6.6235	16.5604	0.84551	0.0:1.0:0.0:0.0	.	425;476;402;502;502	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	L	502;476;402;476	ENSP00000380142:S402L;ENSP00000380146:S476L	ENSP00000323680:S502L	S	+	2	0	DCAF11	23662125	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.737000	0.74816	2.778000	0.95560	0.655000	0.94253	TCG		0.572	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		Missense_Mutation	14	43	0	0	0	1	0	14	43				
CPSF4	10898	broad.mit.edu	37	7	99054072	99054072	+	Silent	SNP	C	C	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr7:99054072C>T	ENST00000292476.5	+	8	769	c.759C>T	c.(757-759)caC>caT	p.H253H	CPSF4_ENST00000441580.1_Silent_p.H175H|CPSF4_ENST00000451876.1_Silent_p.H195H|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000436336.2_Silent_p.H228H|PTCD1_ENST00000555673.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	253					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGAAAGGACACTACGCCAACA	0.577																																						ENST00000436336.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(682-684)caC>caT		cleavage and polyadenylation specific factor 4, 30kDa							90.0	77.0	82.0					7																	99054072		2203	4300	6503	SO:0001819	synonymous_variant	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99054072C>T		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.759C>T	7.37:g.99054072C>T						ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000292476.5_Silent_p.H253H|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000451876.1_Silent_p.H195H|CPSF4_ENST00000441580.1_Silent_p.H175H	p.H228H	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN			8	845	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		253					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Silent	SNP	ENST00000292476.5	37	c.684C>T	CCDS5664.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.031925	0.54790	.	.	ENSG00000160917	ENST00000452047;ENST00000440514	T	0.33654	1.4	6.01	4.19	0.49359	.	.	.	.	.	T	0.46698	0.1406	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43065	-0.9414	6	0.87932	D	0	-20.1672	8.7233	0.34454	0.0:0.736:0.0:0.264	.	.	.	.	I	164;150	ENSP00000392584:T164I	ENSP00000415188:T150I	T	+	2	0	CPSF4	98892008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.282000	0.43461	2.851000	0.98039	0.609000	0.83330	ACT		0.577	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			15	23	0	0	0	1	0	15	23				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	50	0	0	0	1	0	3	50				
RTP4	64108	broad.mit.edu	37	3	187089150	187089150	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr3:187089150A>G	ENST00000259030.2	+	2	840	c.730A>G	c.(730-732)Aca>Gca	p.T244A		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	244					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CAAATGCTTTACATCAGAATG	0.378																																						ENST00000259030.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(730-732)Aca>Gca		receptor (chemosensory) transporter protein 4							47.0	41.0	43.0					3																	187089150		2203	4300	6503	SO:0001583	missense	64108				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:187089150A>G	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"""Receptor transporter proteins"""	23992	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 4"""	609350	"""receptor transporter protein 4"""			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.730A>G	3.37:g.187089150A>G	ENSP00000259030:p.Thr244Ala						p.T244A	NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	840	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		244					Q9H4F3	Missense_Mutation	SNP	ENST00000259030.2	37	c.730A>G	CCDS33910.1	.	.	.	.	.	.	.	.	.	.	A	6.939	0.543016	0.13250	.	.	ENSG00000136514	ENST00000259030	T	0.18960	2.18	3.9	-3.41	0.04839	.	4.991230	0.00424	N	0.000068	T	0.12347	0.0300	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.33137	-0.9880	10	0.87932	D	0	6.2582	4.565	0.12180	0.2054:0.0:0.3787:0.4159	.	244	Q96DX8	RTP4_HUMAN	A	244	ENSP00000259030:T244A	ENSP00000259030:T244A	T	+	1	0	RTP4	188571844	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.544000	0.06077	-0.604000	0.05760	-0.333000	0.08304	ACA		0.378	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		11	16	0	0	0	1	0	11	16				
OSBPL6	114880	broad.mit.edu	37	2	179255937	179255937	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr2:179255937G>T	ENST00000190611.4	+	22	2815	c.2439G>T	c.(2437-2439)tgG>tgT	p.W813C	OSBPL6_ENST00000409045.3_Missense_Mutation_p.W782C|OSBPL6_ENST00000392505.2_Missense_Mutation_p.W838C|OSBPL6_ENST00000409631.1_Missense_Mutation_p.W777C|OSBPL6_ENST00000359685.3_Missense_Mutation_p.W777C|OSBPL6_ENST00000315022.2_Missense_Mutation_p.W817C	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	813					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGTGCATTTGGAGACCAGGTG	0.527																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2437-2439)tgG>tgT		oxysterol binding protein-like 6							138.0	121.0	127.0					2																	179255937		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179255937G>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2439G>T	2.37:g.179255937G>T	ENSP00000190611:p.Trp813Cys					OSBPL6_ENST00000409631.1_Missense_Mutation_p.W777C|OSBPL6_ENST00000392505.2_Missense_Mutation_p.W838C|OSBPL6_ENST00000359685.3_Missense_Mutation_p.W777C|OSBPL6_ENST00000315022.2_Missense_Mutation_p.W817C|OSBPL6_ENST00000409045.3_Missense_Mutation_p.W782C	p.W813C	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		22	2815	+			813					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.2439G>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398950	0.83120	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.81399	0.4814	H	0.98027	4.13	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.998;0.999;1.0	D	0.88777	0.3268	10	0.87932	D	0	-7.4271	18.8281	0.92127	0.0:0.0:1.0:0.0	.	782;817;777;838;813	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	C	838;777;782;813;777;817	ENSP00000376293:W838C;ENSP00000352713:W777C;ENSP00000387248:W782C;ENSP00000190611:W813C;ENSP00000386885:W777C;ENSP00000318723:W817C	ENSP00000190611:W813C	W	+	3	0	OSBPL6	178964183	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.624000	0.98398	2.514000	0.84764	0.462000	0.41574	TGG		0.527	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		45	11	1	0	1.35964e-18	1	1.49838e-18	45	11				
PYGB	5834	broad.mit.edu	37	20	25273158	25273158	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr20:25273158G>A	ENST00000216962.4	+	17	2196	c.2086G>A	c.(2086-2088)Gcc>Acc	p.A696T		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	696					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CATGGACGGCGCCAACGTGGA	0.647																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(2086-2088)Gcc>Acc		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						77.0	72.0	74.0					20																	25273158		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25273158G>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.2086G>A	20.37:g.25273158G>A	ENSP00000216962:p.Ala696Thr						p.A696T	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			17	2196	+			696					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.2086G>A	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.665160	0.96745	.	.	ENSG00000100994	ENST00000216962	D	0.95103	-3.61	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.98432	0.9478	H	0.99090	4.425	0.80722	D	1	D	0.67145	0.996	D	0.65140	0.932	D	0.99712	1.1007	10	0.87932	D	0	-33.9554	16.8738	0.86046	0.0:0.0:1.0:0.0	.	696	P11216	PYGB_HUMAN	T	696	ENSP00000216962:A696T	ENSP00000216962:A696T	A	+	1	0	PYGB	25221158	1.000000	0.71417	0.945000	0.38365	0.981000	0.71138	9.482000	0.97935	2.385000	0.81259	0.462000	0.41574	GCC		0.647	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		21	81	0	0	0	1	0	21	81				
FGF16	8823	broad.mit.edu	37	X	76709702	76709702	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chrX:76709702A>G	ENST00000439435.1	+	1	55	c.55A>G	c.(55-57)Act>Gct	p.T19A				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of brown fat cell proliferation (GO:0070349)|response to temperature stimulus (GO:0009266)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(1)|lung(2)	4						CGGGGAGTGGACTCTGGCCTG	0.428																																						ENST00000439435.1																			0				NS(1)|breast(1)|lung(2)	4						c.(55-57)Act>Gct		fibroblast growth factor 16							87.0	81.0	83.0					X																	76709702		1918	4116	6034	SO:0001583	missense	8823				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity	g.chrX:76709702A>G	AB009391	CCDS75996.1	Xq21.1	2014-01-31			ENSG00000196468	ENSG00000196468			3672	protein-coding gene	gene with protein product		300827	"""metacarpal 4-5 fusion"""	MF4		9473496, 11474196, 23709756	Standard	NM_003868		Approved		uc011mqp.2	O43320	OTTHUMG00000013133	ENST00000439435.1:c.55A>G	X.37:g.76709702A>G	ENSP00000399324:p.Thr19Ala						p.T19A			O43320	FGF16_HUMAN			1	55	+			0						Missense_Mutation	SNP	ENST00000439435.1	37	c.55A>G		.	.	.	.	.	.	.	.	.	.	A	12.87	2.068734	0.36470	.	.	ENSG00000196468	ENST00000439435	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	T	0.62551	0.2437	.	.	.	.	.	.	.	.	.	.	.	.	T	0.70641	-0.4816	3	.	.	.	.	12.9364	0.58316	1.0:0.0:0.0:0.0	.	.	.	.	A	19	.	.	T	+	1	0	FGF16	76596358	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.037000	0.93765	1.691000	0.51100	0.486000	0.48141	ACT		0.428	FGF16-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036814.1	NM_003868		6	9	0	0	0	1	0	6	9				
NBPF9	400818	broad.mit.edu	37	1	144814702	144814702	+	Missense_Mutation	SNP	G	G	T	rs202229831	byFrequency	TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr1:144814702G>T	ENST00000440491.2	+	3	340	c.340G>T	c.(340-342)Gct>Tct	p.A114S	NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.A114S|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	372						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						CCTGGTTCACGCTCAGGAACG	0.493													.|||	28	0.00559105	0.0174	0.0029	5008	,	,		21849	0.001		0.002	False		,,,				2504	0.0					ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(340-342)Gct>Tct		neuroblastoma breakpoint family, member 9							74.0	58.0	63.0					1																	144814702		692	1588	2280	SO:0001583	missense	400818							g.chr1:144814702G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.340G>T	1.37:g.144814702G>T	ENSP00000390934:p.Ala114Ser					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.A114S	p.A114S	NM_001037675.2	NP_001032764.1					3	340	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.340G>T		.	.	.	.	.	.	.	.	.	.	.	0.001	-3.251443	0.00022	.	.	ENSG00000168614	ENST00000338347;ENST00000440491	T;T	0.03468	3.92;3.94	0.618	-1.24	0.09435	.	.	.	.	.	T	0.00384	0.0012	.	.	.	0.09310	N	0.999997	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.49995	-0.8879	8	0.02654	T	1	.	6.752	0.23491	0.1656:0.0:0.6575:0.177	.	372;112	Q3BBV1;A2BGT5	NBPFK_HUMAN;.	S	114	ENSP00000342975:A114S;ENSP00000390934:A114S	ENSP00000342975:A114S	A	+	1	0	NBPF9	143526059	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.627000	0.00410	-4.662000	0.00037	-3.692000	0.00024	GCT		0.493	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		4	114	1	0	5.4927e-09	1	5.70396e-09	4	114				
PROM1	8842	broad.mit.edu	37	4	15989292	15989292	+	Silent	SNP	T	T	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr4:15989292T>A	ENST00000510224.1	-	20	2372	c.2124A>T	c.(2122-2124)ggA>ggT	p.G708G	PROM1_ENST00000447510.2_Silent_p.G708G|PROM1_ENST00000505450.1_Silent_p.G699G|PROM1_ENST00000539194.1_Silent_p.G708G|PROM1_ENST00000543373.1_Silent_p.G699G|PROM1_ENST00000540805.1_Silent_p.G708G|PROM1_ENST00000508167.1_Silent_p.G699G			O43490	PROM1_HUMAN	prominin 1	708					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TTACCAACAATCCATTCCCTG	0.353																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(2095-2097)ggA>ggT		prominin 1							175.0	169.0	171.0					4																	15989292		1826	4087	5913	SO:0001819	synonymous_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15989292T>A	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.2124A>T	4.37:g.15989292T>A						PROM1_ENST00000539194.1_Silent_p.G708G|PROM1_ENST00000540805.1_Silent_p.G708G|PROM1_ENST00000508167.1_Silent_p.G699G|PROM1_ENST00000447510.2_Silent_p.G708G|PROM1_ENST00000510224.1_Silent_p.G708G|PROM1_ENST00000543373.1_Silent_p.G699G	p.G699G	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			19	2709	-			708					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	ENST00000510224.1	37	c.2097A>T	CCDS47029.1																																																																																				0.353	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		23	109	0	0	0	1	0	23	109				
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-	rs376016449		TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr5:32419951_32419953delGGT	ENST00000265069.8	-	3	495_497	c.393_395delACC	c.(391-396)ccaccc>ccc	p.131_132PP>P		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	131	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(391-396)ccc>cc		zinc finger RNA binding protein																																				SO:0001651	inframe_deletion	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32419951_32419953delGGT	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.393_395delACC	5.37:g.32419960_32419962delGGT	ENSP00000265069:p.Pro133del						p.PP131del	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	3	495_497	-			131			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	In_Frame_Del	DEL	ENST00000265069.8	37	c.393_395delACC	CCDS34139.1																																																																																				0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			7	383						7	383	---	---	---	---
RUNX2	860	broad.mit.edu	37	6	45296445	45296446	+	5'UTR	INS	-	-	A			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr6:45296445_45296446insA	ENST00000371438.1	+	0	340_341				SUPT3H_ENST00000371460.1_Intron|SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000459689.1_Intron|RUNX2_ENST00000483243.1_3'UTR|RUNX2_ENST00000371436.6_5'Flank|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.K63fs|RUNX2_ENST00000465038.2_5'UTR|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.K63fs|SUPT3H_ENST00000306867.5_Intron|RUNX2_ENST00000576263.1_5'Flank	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2						BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGTTCTATCTGAAAAAAAAAGG	0.386																																						ENST00000352853.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(184-189)ctaaaafs		runt-related transcription factor 2																																				SO:0001623	5_prime_UTR_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45296445_45296446insA	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.-18->A	6.37:g.45296454_45296454dupA						SUPT3H_ENST00000371460.1_Intron|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.LK62fs|RUNX2_ENST00000465038.2_5'UTR|SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000459689.1_Intron|RUNX2_ENST00000371438.1_5'UTR|RUNX2_ENST00000483243.1_3'UTR|SUPT3H_ENST00000371459.1_Intron	p.LK62fs			Q13950	RUNX2_HUMAN			2	186_187	+			0			Poly-Gln.		O14614|O14615|O95181	Frame_Shift_Ins	INS	ENST00000371438.1	37	c.186_187insA	CCDS43467.2																																																																																				0.386	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		7	86						7	86	---	---	---	---
LIPE-AS1	100996307	broad.mit.edu	37	19	42989130	42989130	+	RNA	DEL	T	T	-	rs76061290|rs530628059		TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr19:42989130delT	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000596116.1_RNA	NR_073179.1				LIPE antisense RNA 1																		tatttatttatttttttttaA	0.254																																						ENST00000594688.1																			0																																																			100996307							g.chr19:42989130delT	AK096849, BM974950		19q13.2	2013-05-21			ENSG00000213904	ENSG00000213904		"""Long non-coding RNAs"""	48589	non-coding RNA	RNA, long non-coding							Standard	NR_073179		Approved				OTTHUMG00000182815		19.37:g.42989130delT						LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000596116.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA		NR_073179.1						0	1450	+									RNA	DEL	ENST00000594688.1	37																																																																																						0.254	LIPE-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000464099.1	NR_073179		2	4						2	4	---	---	---	---
MBOAT7	79143	broad.mit.edu	37	19	54692324	54692324	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr19:54692324delA	ENST00000245615.1	-	2	519	c.39delT	c.(37-39)cttfs	p.L13fs	MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000391754.1_Frame_Shift_Del_p.L13fs|TSEN34_ENST00000396383.1_5'Flank|TSEN34_ENST00000302937.4_5'Flank|TSEN34_ENST00000396388.2_5'Flank|TSEN34_ENST00000429671.2_5'Flank|MBOAT7_ENST00000474910.1_Intron|MBOAT7_ENST00000431666.2_5'UTR	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	13					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGATGGAGATAAGAAGAACCA	0.567											OREG0003643	type=REGULATORY REGION|Gene=LENG4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									NSCLC(97;826 2151 10470 22540)	ENST00000245615.1																			0				endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10						c.(37-39)ctfs		membrane bound O-acyltransferase domain containing 7							47.0	47.0	47.0					19																	54692324		2188	4268	6456	SO:0001589	frameshift_variant	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54692324delA	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.39delT	19.37:g.54692324delA	ENSP00000245615:p.Leu13fs		OREG0003643	type=REGULATORY REGION|Gene=LENG4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1002	MBOAT7_ENST00000431666.2_5'UTR|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000474910.1_Intron|MBOAT7_ENST00000391754.1_Frame_Shift_Del_p.L13fs	p.L13fs	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN			2	519	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		13					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Frame_Shift_Del	DEL	ENST00000245615.1	37	c.39delT	CCDS12883.1																																																																																				0.567	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		2	4						2	4	---	---	---	---
